Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27215 | 81868;81869;81870 | chr2:178564489;178564488;178564487 | chr2:179429216;179429215;179429214 |
| N2AB | 25574 | 76945;76946;76947 | chr2:178564489;178564488;178564487 | chr2:179429216;179429215;179429214 |
| N2A | 24647 | 74164;74165;74166 | chr2:178564489;178564488;178564487 | chr2:179429216;179429215;179429214 |
| N2B | 18150 | 54673;54674;54675 | chr2:178564489;178564488;178564487 | chr2:179429216;179429215;179429214 |
| Novex-1 | 18275 | 55048;55049;55050 | chr2:178564489;178564488;178564487 | chr2:179429216;179429215;179429214 |
| Novex-2 | 18342 | 55249;55250;55251 | chr2:178564489;178564488;178564487 | chr2:179429216;179429215;179429214 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1704934974  |
None | 0.992 | N | 0.542 | 0.309 | 0.326616659874 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1704934974 |
None | 0.992 | N | 0.542 | 0.309 | 0.326616659874 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.999 | N | 0.687 | 0.369 | 0.595474516288 | gnomAD-4.0.0 | 2.74013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60056E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5533 | ambiguous | 0.5168 | ambiguous | -0.62 | Destabilizing | 0.996 | D | 0.529 | neutral | N | 0.487261448 | None | None | N |
| G/C | 0.6973 | likely_pathogenic | 0.6736 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.528940915 | None | None | N |
| G/D | 0.8591 | likely_pathogenic | 0.836 | pathogenic | -1.289 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.510691612 | None | None | N |
| G/E | 0.8669 | likely_pathogenic | 0.8334 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/F | 0.9688 | likely_pathogenic | 0.9621 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/H | 0.9306 | likely_pathogenic | 0.912 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/I | 0.9157 | likely_pathogenic | 0.9073 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/K | 0.9152 | likely_pathogenic | 0.89 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/L | 0.9392 | likely_pathogenic | 0.9295 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/M | 0.9425 | likely_pathogenic | 0.9334 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/N | 0.8124 | likely_pathogenic | 0.7868 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| G/P | 0.9901 | likely_pathogenic | 0.9892 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/Q | 0.8726 | likely_pathogenic | 0.8402 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/R | 0.8538 | likely_pathogenic | 0.81 | pathogenic | -0.854 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.491149015 | None | None | N |
| G/S | 0.3529 | ambiguous | 0.3218 | benign | -0.848 | Destabilizing | 0.992 | D | 0.542 | neutral | N | 0.469624492 | None | None | N |
| G/T | 0.709 | likely_pathogenic | 0.6859 | pathogenic | -0.926 | Destabilizing | 0.813 | D | 0.503 | neutral | None | None | None | None | N |
| G/V | 0.8565 | likely_pathogenic | 0.8372 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.492198972 | None | None | N |
| G/W | 0.9435 | likely_pathogenic | 0.9299 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9408 | likely_pathogenic | 0.9313 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.